P129T (p.Pro129Thr) variant of DNMT1 (P26358)
P129T (p.Pro129Thr) in DNMT1 (P26358) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
P129T (p.Pro129Thr) variant details
- p.Pro129Thr
- rs1085307715
- ClinGen CA403946214
- ClinVar RCV000489739
- gnomAD rs1085307715
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.02
- CADD 4.00
- PolyPhen-2 0.22
- SIFT 0.13
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available